Table 3 Long-term “neurocognitive” outcome after HSCT in patients with Mucopolysaccharidosis type I-H.

Psychomotor development		50 ≤ IQ < 70	4/23 (17%)
Age at walking in months (median, IQR), n = 37	18 (17–24)	IQ < 50 or not evaluable	3/23 (13%)
Age at first sentences in years (median, IQR), n = 30	3.5 (3–4)	“Verbal” IQ ≥ 70	15/21 (71%)
Acquisition of an intelligible language	42/46 (91%)	“Non Verbal” IQ ≥ 70	14/21 (67%)
Acquisition of reading/writing at 8 years of age	32/41 (78%)	Education (for ≥ 6 years old)^b, n = 43
Neurological outcome		Normal or remedial school	25/43 (58%)
Active hydrocephalus and/or need for a VP shunt	10/47 (21%)	Specialized school (for intellectual disability)	11/43 (26%)
White matter hyperintensities on brain MRI	14/39 (36%)	Medically supervised full-time institution	7/43 (16%)
Cortical atrophy on brain MRI	12/39 (31%)	Situation in adulthood^c, n = 13
Last IQ evaluation^a (n, %), n = 23		Good socio-professional insertion	8/13 (62%)
IQ ≥ 85	4/23 (17%)	Adapted employment (for mental disability)	3/13 (23%)
70 ≤ IQ < 85	12/23 (52%)	None	2/13 (15%)

Long-term follow-up was analyzed in patients who survived beyond the first year after transplantation (n = 47).
HSCT Hematopoietic stem cell transplantation, IQ Intelligence quotient, IQR Interquartile range, MRI Magnetic resonance imaging, VP Ventriculoperitoneal shunt.
^aAt a median age of 9 years (IQR 5.7–12).
^bGraded in 3 levels: 1. Normal or remedial schooling (for minor learning disabilities such as dyslexia, hyperactivity); 2. Specialized schools for intellectual disability; 3. Medically supervised full-time institution (for severe mental retardation).
^cGraded in 3 levels: 1. Good socio-professional insertion, if patients were able to work or to be involved in vocation training or graduate education; 2. Adapted employment in a specific institution for mentally-disabled workers; 3. Neither of the above.

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